Related Experiment Video

Updated: Jul 2, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants

Asami Kashiwa1, Hideki Itoh2, Takeru Makiyama3

  • 1Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Cardiology, Niigata City General Hospital, Niigata, Japan.

Heart Rhythm
|February 17, 2024
PubMed
Abstract

Keywords:
Arrhythmic riskC-terminusFounder effectKv7.1Long QT syndrome

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